survey study and records review of treatment outcomes in freeman-sheldon syndrome

Conditions: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

Summary: freeman-sheldon syndrome (fss) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet. this is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with fss but including patients with sheldon-hall syndrome (shs), distal arthrogryposis type 1 (da1), and distal arthrogryposis type 3 (da3), also called gorden syndrome. these and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. it is hoped the study will identify areas for further research in physiology and therapy. this study will cover all types of treatment \[medical (non-surgical), including psychiatric, and surgical treatments\], even unconventional. it also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. this study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. there will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. treatment success depends on getting a correct diagnosis.

this study was initiated by the research assistant (mikaela i. poling) and assisted by another research assistant (j. andrés morales), as part of their academic project on these syndromes, under the supervision of the principal investigator (robert l chamberlain). classic fss, shs, da1, and da3 are poorly understood pathological entities that share some similar physical findings to fss. stevenson et al. (2006) provided the only study to date on fss features and history. they did not, however, focus on therapeutic outcomes, and there was limited anecdotal outcome data in single and multiple case reports. the objectives for stop-fss are as follows: to evaluate (1) physical findings, possible frequency clusters, and complications of physical findings amongst patients with fss; (2) posttraumatic stress and depressive symptoms and associated therapeutic outcomes in patients with fss, using single-disease specific (i.e., posttraumatic stress symptoms, chronic depression) measures; (3) document treatment types and outcomes; (4) evaluate quality of life in patients with fss, using a general quality of life self-report measure and syndrome-specific semi-structured quality of life interview; (5) educational attainment and services used; (6) evaluate diagnostic accuracy of fss and shs, using the stevenson criteria; and (7) evaluate possible differences with patients meeting the full stevenson criteria and those fulfilling the craniofacial part of the stevenson criteria, with or without additional malformations. the following hypotheses are thus proposed. first, it is suggested that physical findings and frequency clusters will be similar to those previously reported, but complications of physical findings amongst patients with fss, having received little attention in the literature, will be pronounced and result in nearly as significant of a disease burden for the patient as the primary physical findings themselves, e.g., intercostal myopathy eventually leading to right heart failure in some patients. second, it is suggested that fss is associated with higher rates of posttraumatic stress symptoms, depressive symptoms than is observed in the general population. third, it is suggested that physiotherapy alone or with surgery is expected to be superior to surgery alone, especially for patients with fss, in treating most problems, but surgery may have an important role, especially treating blepharophimosis and in combination with intensive pre- and post-operative physiotherapy in treating selective tendon lengthening in hands and feet. fourth, it is suggested that fss is associated with reduced quality of life than is observed in the general population. fifth, it is suggested that when patients with fss who do not have neurocognitive features receive the appropriate academic services, they frequently excel beyond family and peers, and it is also suggested that most patients with fss do not receive educational services that are responsive to their unique needs and abilities, e.g., placement in 'special' classes or schools based on the patient's appearance or poorly conducted intelligence tests. sixth, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with a stated diagnosis of fss will not meet the stevenson criteria and be rediagnosed, mostly as da1. seventh, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with stated diagnosis of fss who do not meet the stevenson criteria, one-third will be meet the craniofacial stipulates of the stevenson criteria, with or without additional malformations, and share a natural history with those who met the full stevenson criteria.

Eligibility criteria:
inclusion criteria: * patients who have phenotypes consistent with (1) the stevenson criteria for classic fbs or shs; (2) one of four tentative fbs subtypes; or (3) da1a, da1b, or da3. * any of the following: (1) patients or parents of minor children willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements. * persons who speak english, spanish, german, russian, or czech. exclusion criteria: * patients who do not have phenotypes consistent with (1) the stevenson criteria for classic fbs or shs; (2) one of four tentative fbs subtypes; or (3) da1a, da1b, or da3. * any of the following: (1) patients or parents of minor children not willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who do not have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements. * potentially persons who speak languages other than english, spanish, german, russian, or czech, subject to translator availability

Keywords: rehabilitation surgery therapy quality of life health-related quality of life health status depressive symptoms situational depression